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1.
Mol Cell Endocrinol ; 539: 111485, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-34619292

RESUMO

Adipogenesis is regulated by a complicated network of transcription factors among which PPARγ and C/EBP family members are the major regulators. During adipogenesis, C/EBPß is induced early and then transactivates PPARγ and C/EBPα, which cooperatively induce genes whose expressions give rise to the mature adipocyte phenotype. Identifying the factors that influence the expression and activity of C/EBPß should provide additional insight into the mechanisms regulating adipogenesis. Here, we demonstrate that depletion of Ajuba in 3T3-L1 cells significantly decreases mRNA and protein levels of PPARγ and C/EBPα and impairs adipocyte differentiation, while overexpression increases expression of these genes and promotes adipocyte differentiation. Moreover, restoration of C/EBPα or PPARγ expression in Ajuba-deficient 3T3-L1 cells improves the impaired lipid accumulation. Mechanistically, Ajuba interacts with C/EBPß and recruits CBP to facilitate the binding of C/EBPß to the promoter of PPARγ and C/EBPα, resulting in increased H3 histone acetylation and target gene expression. Collectively, these data indicate that Ajuba functions as a co-activator of C/EBPß, and may be an important therapeutic target for combating obesity-related diseases.

2.
Z Gastroenterol ; 2021 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-34768288

RESUMO

BACKGROUND: A disposable upper gastrointestinal endoscope can effectively decrease infectious outbreaks associated with endoscope reuse. In the present study, we aimed to evaluate the feasibility and safety of a disposable endoscope for upper gastrointestinal examination. METHODS: In a prospective, randomized trial, 144 upper endoscopic procedures were allocated to either the disposable endoscope group or the conventional endoscope group. The primary outcomes were rates of excellent and good image qualities and maneuverability satisfaction. The second outcome included procedure duration, endoscopic diagnosis, and adverse events. RESULTS: A total of 144 subjects were enrolled in the present analysis and prospectively randomized to 2 study groups. Finally, 70 and 69 subjects were enrolled in the novel disposable endoscope group and the conventional endoscope group, respectively, due to the schedule cancellation of 5 subjects. The baseline characteristics of the patients were similar in both groups. The excellent and good image quality rates and maneuverability satisfaction of the novel disposable endoscope were not inferior to the conventional endoscope (p = 0.99 and p = 0.99, respectively). Moreover, no significant between-group difference was observed in the endoscopic results and adverse events (p = 0.30 and p = 1, respectively). However, the procedure duration in the novel disposable endoscope was longer compared with the conventional endoscope (8.40 ± 4.28 min vs. 5.12 ± 2.65 min, p < 0.001). CONCLUSIONS: The novel disposable endoscope was as safe, effective, and maneuverable as a conventional endoscope. However, the novel disposable endoscope was associated with a longer procedure duration.

3.
Front Oncol ; 11: 754353, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34722307

RESUMO

Prostate cancer (PCa) has become the most frequently occurring cancer among western men according to the latest report, and patients' prognosis is often poor in the event of tumor progression, therefore, many researches are devoted to exploring the molecular mechanism of PCa metastasis. MicroRNAs (miRNA) have proved to play an important role in this process. In present study, by combining clinical samples with public databases, we found that miR-629-5p increased to varying degrees in primary localized PCa tissues and metastatic PCa tissues compared with adjacent normal tissues, and bioinformatics analysis suggested that high level of miR-629-5p was related to poor prognosis. Functionally, miR-629-5p drove PCa cell proliferation, migration and invasion in vitro, and promoted growth of PCa cells in vivo. Moreover, A-kinase Anchor Protein 13 (AKAP13) was screened as a direct target of miR-629-5p, that expression was negatively correlated with the malignant phenotype of tumor cells. In the end, through verification in clinical specimens, we found that AKAP13 could be independently used as a clinical prognostic indicator. Overall, the present study indicates that miR-629-5p plays an oncogenic role in PCa by targeting AKAP13, which provides a new idea for clinical diagnosis and treatment of complex refractory PCa.

4.
World J Clin Cases ; 9(25): 7527-7534, 2021 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-34616822

RESUMO

BACKGROUND: The immune-mediated invasion of IgG4-positive plasma cells in the liver is found in some autoimmune hepatitis. Giant-cell hepatitis (GCH) is a very rare pathological feature in adults, and the clinical characteristics of the simultaneous appearance of the two pathological phenomena are not clear. CASE SUMMARY: A 68-year-old woman was hospitalized with fatigue, poor appetite, and yellow urine for 20 d. Liver function tests and immunological indexes were significantly abnormal and accompanied by elevated serum IgG4 levels. Liver pathology revealed severe inflammation of the interface between the portal tract and hepatocytes, portal area inflammation, plasma cell infiltration, formation of rosette cells, IgG4-positive plasma cells > 10/high-power field, IgG4/IgG > 40%, and multinucleated liver cell swelling. IgG4-related autoimmune hepatitis (AIH) combined with GCH was diagnosed, and methylprednisolone was administered at 40 mg/day. Two weeks later, the clinical symptoms disappeared, and the liver function and immunological indicators were significantly improved. Methylprednisolone was reduced at a rate of 4-8 mg per week to 8 mg/day for maintenance. A second liver biopsy 48 wk later indicated that liver inflammation and fibrosis were significantly improved. IgG4-positive plasma cells and GCH were not detected. A literature search was conducted to analyze articles reporting similar pathological phenomena. CONCLUSION: AIH with simultaneous IgG4-positive plasma cell infiltration and GCH, liver inflammation, and fibrosis is possibly more severe than typical AIH but sensitive to corticosteroids.

5.
IEEE Trans Biomed Eng ; PP2021 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-34506276

RESUMO

This paper proposes a novel method for real-time wrist kinematics identification. Method: We design the wrist kinematics regression model following a novel ellipsoidal joint formulation, which features a quaternion-based rotation constraint and 2-dimensional Fourier linear combiners (FLC) to approximate the coupled rotations and translational displacements of the wrist. Extended Kalman Filter (EKF) is then implemented to update the model in real-time. However, unlike previous studies, here we introduce a sparsity-promoting feature in the model regression through the optimality of EKF by designing a smooth 1-minimization observation function. This is done to ensure the best identification of key parameters, and to improve the robustness of regression under noisy conditions. Results: Simulations employ multiple reference models to evaluate the performance of the proposed approach. Experiments are later carried out on motion data collected by a lab-developed wrist kinematics measurement tool. Both simulation and experiment show that the proposed approach can robustly identify the wrist kinematics in real-time. Conclusion: The findings confirm that the proposed regression model combined with the sparsity-promoting EKF is reliable in the real-time modeling of wrist kinematics. Significance: The proposed method can be applied to generic wrist kinematics modeling problems, and utilized in the control system of wearable wrist exoskeletons. The framework of the proposed method may also be applied to real-time identification of other joints for exoskeleton control.

6.
Ann Clin Lab Sci ; 51(4): 503-511, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34452888

RESUMO

OBJECTIVE: To compare the e!cacy and functional outcomes of dl-3-n-Butylphthalide (NBP) and human urinary kallidinogenase (HUK) on ischemic stroke patients and to determine their effects on serum tumor necrosis factor-alpha (TNF-α) and vascular endothelial growth factor (VEGF). METHODS: A prospective study was conducted on 57 ischemic stroke patients. Functional outcomes were assessed by the National Institute Health Stroke Scale (NIHSS), the modified Rankin Scale (mRS), and the activities of daily living score (ADL), whereas TNF-α and VEGF expressions were measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: TNF-α was significantly down-regulated in the NBP group and upregulated in the control group two weeks after treatment (p=0.017 and p=0.047, respectively). A significant difference in VEGF expressions was observed between the two groups (330.25±120.64 vs. 437.15±137.68, p=0.041) two weeks after treatment. Both groups showed significant improvement in NIHSS and ADL scores three months after treatment (p<0.001), with the NBP group exhibiting improvement in NIHSS scores as early as two weeks after treatment (p=0.008). The three-month NIHSS scores of the two groups were significantly lower than those of the control group (p=0.010 and p=0.008, respectively). Both the NBP and HUK groups showed a significant decline in mRS scores two weeks and three months after treatment (p<0.05). CONCLUSIONS: Both treatments are effective and can significantly promote recovery in stroke patients. Additionally, both options have similar effects in promoting long-term recovery, with NBP exerting a greater impact on serum VEGF and TNF-α expressions.


Assuntos
Benzofuranos/uso terapêutico , Biomarcadores/sangue , Isquemia Encefálica/patologia , AVC Isquêmico/patologia , Calicreínas/administração & dosagem , Fator de Necrose Tumoral alfa/sangue , Fator A de Crescimento do Endotélio Vascular/sangue , Doença Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Isquemia Encefálica/sangue , Isquemia Encefálica/terapia , Estudos de Casos e Controles , Feminino , Humanos , AVC Isquêmico/sangue , AVC Isquêmico/terapia , Calicreínas/urina , Masculino , Pessoa de Meia-Idade , Fármacos Neuroprotetores/uso terapêutico , Prognóstico , Adulto Jovem
7.
Chem Commun (Camb) ; 57(59): 7276-7279, 2021 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-34196639

RESUMO

Three kinds of microstructures were prepared for one organic phosphor based on a solution-concentration-controlled self-assembly strategy. These microstructures show different phosphorescence efficiencies, which holds considerable promise for the miniaturized optical device applications of ultralong organic phosphorescence materials.

8.
Anal Methods ; 13(26): 2908-2914, 2021 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-34156044

RESUMO

Biothiols are widely involved in various important physiological activities and play a significant role in maintaining redox homeostasis in living organisms. Herein, we designed and synthesized three new asymmetric fluorescent probes (BDP-S-Ph, BDP-S-ENE and BDP-S-R) to discriminate Cys from Hcy/GSH. These probes reacted with Cys to form meso-amino-BODIPYs via SNAr substitution-rearrangement, thereby inducing a fluorescence turn-on effect. Moreover, they could selectively and sensitively detect Cys in solution with low detection limits (50 nM, 28 nM and 87 nM, respectively). Through comparing the response rates of the three probes to Cys, we concluded that the increase of conformational restrictions led to a decrease in probe reactivity. Besides, the sensing mechanism was demonstrated by mass spectrometry. Furthermore, cell experiments indicated that the probes were able to image exogenous and endogenous Cys through green or red channels in living cells.


Assuntos
Cisteína , Corantes Fluorescentes , Compostos de Boro , Glutationa
9.
Prenat Diagn ; 41(9): 1153-1163, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34185917

RESUMO

OBJECTIVES: To investigate the genetic aberrations in fetuses with short femur and explore the relationships with respect to degree of femoral shortening and the initial diagnostic gestational age GA. METHODS: Singleton pregnancies with fetal short femur who consented to amniocentesis and to single nucleotide polymorphism (SNP) array and Sanger sequencing for G380R mutations in FGFR3 gene were enrolled in this 5-year period prospective study. Clinical follow-up assessments were performed after birth. RESULTS: Of a total of 161 fetuses, the prevalence of genetic aberrations was 16.2% (26/161), comprised of 65.4% (17/26) with chromosomal abnormalities and 34.6% (9/26) with G380R mutations. All fetuses with chromosomal abnormalities had FL 2-4SDs below GA. Fewer chromosomal abnormalities were detected in fetuses with short femurs presenting in the third trimester. Significantly more FGFR3 mutations were detected in fetuses with FL below -4SDs. All fetuses with FL 2-4SDs below GA diagnosed as achondroplasia were between 22 and 24 gestational weeks, and all of those diagnosed in third trimester had FL below -4SDs. CONCLUSION: In this small cohort study, we demonstrated that different degrees of femur shortness may be attributed to different genetic aberrations. SNP array should be regarded as the first-tier test for fetuses with FL 2-4SDs below GA. The prognoses for fetuses with FL 2-4SDs below GA was significantly better than those with FL below 4SDs.

10.
EMBO Rep ; 22(8): e51780, 2021 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-34184805

RESUMO

Snail is a dedicated transcriptional repressor and acts as a master inducer of EMT and metastasis, yet the underlying signaling cascades triggered by Snail still remain elusive. Here, we report that Snail promotes colorectal cancer (CRC) migration by preventing non-coding RNA LOC113230-mediated degradation of argininosuccinate synthase 1 (ASS1). LOC113230 is a novel Snail target gene, and Snail binds to the functional E-boxes within its proximal promoter to repress its expression in response to TGF-ß induction. Ectopic expression of LOC113230 potently suppresses CRC cell growth, migration, and lung metastasis in xenograft experiments. Mechanistically, LOC113230 acts as a scaffold to facilitate recruiting LRPPRC and the TRAF2 E3 ubiquitin ligase to ASS1, resulting in enhanced ubiquitination and degradation of ASS1 and decreased arginine synthesis. Moreover, elevated ASS1 expression is essential for CRC growth and migration. Collectively, these findings suggest that TGF-ß and Snail promote arginine synthesis via inhibiting LOC113230-mediated LRPPRC/TRAF2/ASS1 complex assembly and this complex can serve as potential target for the development of new therapeutic approaches to treat CRC.


Assuntos
Argininossuccinato Sintase , Transição Epitelial-Mesenquimal , Arginina , Linhagem Celular Tumoral , Movimento Celular/genética , Transição Epitelial-Mesenquimal/genética , Fatores de Transcrição da Família Snail/genética , Fatores de Transcrição da Família Snail/metabolismo , Ubiquitinação
11.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 52(2): 319-325, 2021 Mar.
Artigo em Chinês | MEDLINE | ID: mdl-33829709

RESUMO

Objective: To explore the application of array-based comparative genomic hybridization (a-CGH) technology in the prenatal diagnostic assessment of abnormal serological prenatal screening results of Down's syndrome (DS). Methods: A total of 3 578 amniotic fluid samples from pregnant women who underwent amniocentesis for prenatal diagnosis solely due to abnormal serological prenatal screening results were selected. The samples were categorized into 3 groups, 2 624 in the high-risk group, 662 in the borderline-risk group, and 292 in the abnormal multiple of median (MoM) group. a-CGH was performed on the Agilent CGX ™ (8×60K) platform and the data were analyzed by the Genoglyphix ® software. Results: The overall detection rate of chromosomal abnormalities was 3.38% (121/3 578). Among the chromosomal abnormalities, 49.59% (60/121) was aneuploidies, 42.15% (51/121) was pathogenic copy number variants (pCNVs), and 8.26% (10/121) was likely pathogenic CNVs (lpCNVs). The detection rate of copy number variant of uncertain significance (VUS) was 1.03% (37/3 578). In the high-risk, the borderline-risk and the abnormal MoM groups, the detection rate of chromosomal abnormalities was 3.54% (93/2 624), 2.87% (19/662) and 3.08% (9/292), respectively; the detection rate of p/lp CNVs was 1.64% (43/2 624), 1.81% (12/662) and 2.05% (6/292), respectively; the detection rate of trisomy 21 and trisomy 18 was 1.37% (36/2 624), 0.76% (5/662) and 0.34% (1/292) in the three groups, respectively. There were no significant differences in all the detection rate among these groups ( P>0.05). One sample with X(51)/XYY(49) confirmed by fluorescence in situ hybridization (FISH) was misdiagnosed by a-CGH. Conclusion: Prenatal diagnosis with a-CGH is of great significance for reducing birth defects in pregnancies with abnormal serological prenatal screening results of DS. It can also be used to detect CNVs of microdeletion/microduplication syndromes.


Assuntos
Síndrome de Down , Aberrações Cromossômicas , Hibridização Genômica Comparativa , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Gravidez , Diagnóstico Pré-Natal
12.
J Cell Physiol ; 236(10): 6824-6835, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33772775

RESUMO

An abnormal urine composition is a key reason for kidney stone formation, but little is known about the roles of small metabolites in the urine during kidney stone formation. Here, we found urine glycine in patients with kidney calcium oxalate (CaOx) stone was significantly lower than that in healthy people via 1 H NMR spectra detection, and investigated the role and underlying mechanism of glycine in the regulation of CaOx stone formation. Our results showed that glycine could significantly attenuate ethylene glycol-induced CaOx crystal depositions in rat kidney via decreasing urine oxalate and increasing urine citrate. Mechanism studies revealed that glycine could decrease urine oxalate through downregulating Slc26a6 expression, whereas increase urine citrate via inhibiting Nadc1 expression. Moreover, glycine decreased the protein expression of both Slc26a6 and Nadc1 via increasing the expression of miRNA-411-3p, which directly bound to the 3'-untranslated regions of Slc26a6 and Nadc1 messenger RNAs, in vitro and in vivo. Together, our results revealed a novel role of glycine in the regulation of kidney CaOx crystal formation and provided a potential target for the treatment of kidney CaOx stone.

13.
Spectrochim Acta A Mol Biomol Spectrosc ; 252: 119502, 2021 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-33578120

RESUMO

Peroxynitrite (ONOO-) plays essential roles on various physiological and pathological processes of living systems as a short-lived and highly reactive nitrogen (RNS) specie. The construction of novel long-wavelength fluorescent probes with high specificity towards ONOO- for imaging in vivo is still demand urgently. About this work, a novel resorufin-based red-emitting fluorescent probe for tracking ONOO- has been constructed. The probe RFP exhibited high selectivity towards ONOO- anion over other analytes. Utilizing the probe, ONOO- could be directly observed by the naked eye. Furthermore, RFP was successfully applied for imaging endogenous ONOO- in RAW264.7 cells and inflammatory mice. This work offers a convenient method for monitoring the intercellur ONOO- that be expected to be applied for explaining the bio-functional roles of ONOO- in living system.


Assuntos
Corantes Fluorescentes , Ácido Peroxinitroso , Animais , Camundongos , Oxazinas
14.
Sci Rep ; 11(1): 10, 2021 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-33420149

RESUMO

This study aimed to discuss association between serum Angiopoietin2 (Ang2) levels, Ang2 gene polymorphisms and systemic lupus erythematosus (SLE) susceptibility. It was carried out by 235 SLE, 342 other inflammatory autoimmune diseases patients and 380 healthy individuals. Serum Ang2 levels was examinated by ELISA, and Ang2 rs12674822, rs1823375, rs1868554, rs2442598, rs3739390 and rs734701 polymorphisms were genotyped using KASP. Increased Ang2 concentrations in SLE patients were observed compared with healthy controls and patients with other inflammatory autoimmune diseases. For allelic contrast, except for rs1823375 (P = 0.058) and rs2442598 (P = 0.523), frequencies of alleles for other polymorphisms were significantly different between SLE patients and controls. Genotypes for rs12674822 (TT), rs1868554 (TT, TA and TT+TA), rs734701 (TT) were negatively correlated with SLE susceptibility (OR = 0.564 for rs12674822; OR = 0.572, OR = 0.625, OR = 0.607 for rs1868554; OR = 0.580 for rs734701). Patients carrying rs1868554 T allele and rs3739390 G allele were more likely to develop hematuria (P = 0.039; P = 0.003). The G allele frequencies of rs12674822 and rs2442598 were higher in SLE patients with proteinuria (P = 0.043; P = 0.043). GC genotype frequency of rs3739390 was higher in patients with ds-DNA (+) (P = 0.024). In summary, SLE had increased serum Ang2, which may be a potential biomarker, and the polymorphisms correlated with SLE.


Assuntos
Angiopoietina-2/sangue , Angiopoietina-2/genética , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/genética , Adulto , Biomarcadores/sangue , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
16.
Epilepsy Res ; 170: 106552, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33486335

RESUMO

PURPOSE: The aim of this retrospective study is to investigate the genetic etiology and propose a diagnostic strategy for pediatric patients with epilepsy and comorbid intellectual disability (ID). METHODS: From September 2014 to May 2020, a total of 102 pediatric patients diagnosed with epilepsy with co-morbid ID with unknown causes were included in this study. All patients underwent tests of single nucleotide polymorphism (SNP) array for chromosomal abnormalities. Whole exome sequencing (WES) was consecutively performed in patients without diagnostic copy number variants (CNVs) (n = 85) for single nucleotide variants (SNVs). Subgroup analyses based on the age of seizure onset and ID severity were done. RESULTS: The overall diagnostic yield of genetic aberrations was 33.3 % (34/102), which comprised 50.0 % with diagnostic CNVs and 50.0 % with diagnostic SNVs. The yield nominally increased with ID severity and decreased with age of seizure onset, though this result was not statistically significant. The diagnostic yield of SNVs in patients with seizure onset in the first year of life (25.0 % (11/44)) was significantly higher than those with childhood-onset epilepsy (10.3 % (6/58)) (p = 0.049), however, the diagnostic yield of CNVs in patients with childhood-onset epilepsy (17.2 % (10/58) was higher than the diagnostic yield of SNVs (10.3 % (6/58)). The most frequently syndromic epilepsy detected by SNP array was Angelman syndrome (n=4), including one confirmed with paternal uniparental disomy. Meanwhile, the most frequent SNVs were mutations of MECP2 (n=2) and IQSEC2 (n = 2) in sporadic cases. CONCLUSION: Both CMA and WES are advantageous as unbiased approaches for a genetically heterogeneous condition. We proposed an effective diagnostic strategy for pediatric patients with epilepsy. For patients with seizure onset in the first year of life, WES is recommended as the first-tier test. However, for patients with childhood-onset epilepsy, SNP array should be considered for the first-tier test.

17.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 52(1): 117-123, 2021 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-33474900

RESUMO

Objective: To evaluate the clinical application of array-based comparative genomic hybridization (a-CGH) in the prenatal diagnosis of fetal chromosomal aberrations in gravidas with advanced maternal age (AMA). Methods: A total of 3 677 amniotic fluid samples from pregnant women who underwent amniocentesis for prenatal diagnosis solely due to AMA were selected. Array-CGH was performed on the Agilent CGX TM (8X60K) platform and the data were analyzed by the Genoglyphix software. Results: The overall detection rate of chromosomal aberration was 2.04% (75/3677), with 53.33% (40/75) being aneuploidies, including 22 cases of trisomy-21, 5 cases of trisomy-18, 8 cases with XXY, 3 cases of XYY and 2 cases of mosaic monosomy X, 32.00% (24/75) being pathogenic copy number variations (pCNVs), including 19 cases of microdeletion and 5 cases of microduplication, with the fragment size ranging from 323 kb to 26 780 kb, and 14.67% (11/75) being likely pathogenic CNVs (lpCNVs), including 7 cases of microdeletion and 7 cases of microduplication, with the fragment size ranging from 358 kb to 16 873 kb. Besides, the detection rate of CNVs of unknown clinical significance (VUS) was 0.84% (31/3 677). The detection rate of aneuploidies increased significantly with increased maternal age ( P<0.05). However, there were no significant differences in the detection rate of p/lpCNVs among different maternal age groups ( P>0.05). Conclusion: Our findings suggest that, compared with traditional karyotype analysis, a-CGH not only detects aneuploidies, but also detect pathogenic CNVs, including microdeletion/microduplication syndromes. The detection rate of fetal aneuploidies was closely correlated to maternal age. However, no correlation was found between the detection rate of p/lpCNVs and maternal age.


Assuntos
Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal , Aberrações Cromossômicas , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA/genética , Feminino , Humanos , Cariotipagem , Gravidez
18.
Int J Rheum Dis ; 24(2): 147-158, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33146461

RESUMO

OBJECTIVES: Mannose binding lectin (MBL) gene single nucleotide polymorphisms have been associated with systemic lupus erythematosus (SLE) risk with inconsistent results. This study aimed to explore whether MBL2 A\B, A\C, A\D, A\O, L\H and Y\X polymorphisms affected SLE susceptibility. METHODS: A meta-analysis was performed on 20 studies, containing allelic contrast, additive, dominant and recessive models. Odds ratio (OR) was calculated to reflect the effect of association. RESULTS: A total of 64 pooled comparisons were conducted, including 7194 SLE patients and 7401 healthy controls. The meta-analysis inducted a significant association between allele B and SLE (OR = 0.766, 95% CI = 0.681-0.862, P < .001). The genotype BB in the additive model and AB + BB in the recessive model both reduced the risk of SLE (OR = 0.611, 95% CI = 0.422-0.882, P = .009; OR = 0.806, 95% CI = 0.688-0.944, P = .008). Regarding A\O polymorphisms, results revealed statistical differences in allelic contrast, additive model and recessive models (OR = 0.826, 95% CI = 0.732-0.931, P = .002; OR = 0.737, 95% CI = 0.557-0.977, P = .034 and OR = 0.793, 95% CI = 0.683-0.921, P = .002, respectively). As for L\H, meta-analysis revealed that allele H and genotype HH both decreased SLE susceptibility in allelic contrast and dominant models (OR = 1.463, 95% CI = 1.097-2.007, P = .018; OR = 1.383, 95% CI = 1.124-1.701, P = .002). Stratification by ethnicity indicated that allele H related to SLE in European populations (OR = 0.736, 95% CI = 0.617-0.879, P = .001), and the recessive model correlated with SLE in Asians (OR = 0.808, 95% CI = 0.667-0.979, P = .03). CONCLUSION: The present study suggests that A\B and A\O polymorphisms were associated with SLE susceptibility, and the allele H may be a protective factor in SLE.

19.
Helicobacter ; 26(1): e12768, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33089598

RESUMO

BACKGROUND: This study aimed to investigate whether an increased proton pump inhibitor (PPI) dose enhanced the efficacy of Helicobacter pylori (H. pylori) eradication and determine the appropriate cutoff intragastric pH value that could predict H. pylori eradication with bismuth-based quadruple therapy. MATERIALS AND METHODS: A total of 207 H. pylori infected, treatment naive patients were enrolled in this prospective, open-label, randomized controlled trial. Patients were randomly allocated into Eso40-group (esomeprazole 40 mg bid) and Eso20-group (esomeprazole 20 mg bid), and their CYP2C19 genotyping status was assessed. The 24-h intragastric pH monitoring on day 7 was performed, and percentage of time gastric pH ≥ 3, ≥4, ≥5, and ≥6 (pH holding time ratios; HTRs) were measured. H. pylori eradication was evaluated using 13 C-urea breath test. RESULTS: No significant difference in the eradication rates was observed between two groups. The median 24-h intragastric pH value was not significant different between two groups but the Eso40 Group had a significant higher pH4 HTRs (91.11% [95%CI: 87.50%-95.83%] vs. 95.83% [95.83%-100%]; p = .002). Additionally, the median 24-h intragastric pH value showed significantly difference between two groups in EM genotype (Eso20 Group 6.00 [95%CI; 5.75-6.15] vs. Eso40 Group 6.30 [6.05-6.30]; p = .019). Similar results were observed in pH4 HTRs. There were significant differences in intragastric pH value (6.10 [95%CI: 4.40-7.00] vs. 5.65 [4.85-5.95], p = .038) and in pH4 HTRs (96% [95%CI: 92.00%-96.00%] vs. 87.5% [67.00%-100.0%], p = .019) between eradication-successful and eradication-failed patients. Statistical analysis suggested that the median intragastric pH = 5.7 could identify the success of H. pylori eradication. CONCLUSIONS: Bismuth-based quadruple therapy resulted in high H. pylori eradication rates either in PPI standard or double doses. Double dose of esomeprazole is associated with better intragastric acid suppression. A median 24-h intragastric pH of 5.7 could be appropriate cutoff value for predicting the successful H. pylori eradication.


Assuntos
Antibacterianos , Bismuto , Infecções por Helicobacter , Concentração de Íons de Hidrogênio , Inibidores da Bomba de Prótons , Antibacterianos/uso terapêutico , Bismuto/uso terapêutico , Quimioterapia Combinada , Esomeprazol/uso terapêutico , Infecções por Helicobacter/tratamento farmacológico , Helicobacter pylori , Humanos , Estudos Prospectivos , Inibidores da Bomba de Prótons/uso terapêutico , Resultado do Tratamento
20.
Am J Obstet Gynecol ; 224(5): 516.e1-516.e16, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33122027

RESUMO

BACKGROUND: Soft markers are nonspecific findings detected by ultrasonography during the second trimester that are often transient and nonpathologic but may imply an increased risk of underlying fetal aneuploidy. However, large-scale prospectively stratified studies focusing on the prevalence of chromosomal aberrations, including copy number variants, in fetuses with different types of isolated soft markers have rarely been published in the literature. OBJECTIVE: This study aimed to investigate clinical outcomes in fetuses with isolated soft markers by single nucleotide polymorphism array with long-term follow-up and to propose a diagnostic algorithm based on specific types of soft markers. STUDY DESIGN: The prevalence of fetal isolated soft markers was 13.2% (7869 of 59,503). A total of 2466 fetuses with ultrasonographic soft markers during the second trimester, which were subjected to single nucleotide polymorphism array with long-term follow-up, were selected in this prospective study over a 5-year period. Soft markers were categorized into 12 groups. The demographic profile and chromosomal microarray analysis detection results were analyzed and compared among different groups. RESULTS: The overall prevalence of chromosomal aberrations in fetuses with soft markers was 4.3% (107 of 2466), which comprised 40.2% with numeric chromosomal abnormalities, 48.6% with pathogenic copy number variants, and 11.2% with likely pathogenic copy number variants. The incidence of numeric chromosomal abnormalities was significantly higher in multiple soft markers (5.5% vs 1.5%; P=.001) and the thickened nuchal fold group (8.3% vs 1.7%; P=.024). Meanwhile, the incidence of pathogenic copy number variants was significantly higher in multiple soft markers (5.5% vs 2.4%; P=.046) and the short femur length group (6.6% vs 2.2%; P<.0001). The incidences of pathogenic copy number variants in fetuses with isolated echogenic intracardiac focus, enlarged cisterna magna, choroid plexus cysts, echogenic bowel, or single umbilical artery were lower than 1.5%. The normal infant rate in fetuses without chromosomal aberrations was 91.7%; however, it was significantly lower in the mild ventriculomegaly (86.2% vs 93.0%; P<.0001) and short femur length groups (71.4% vs 93.6%; P<.0001). CONCLUSION: The potential chromosomal aberrations and clinical prognoses varied widely among different types of isolated soft markers. Pathogenic copy number variants are more often present in specific soft markers, especially when multiple soft markers are found. Thus, a specific soft marker type-based prenatal genetic testing algorithm was proposed.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/genética , Variações do Número de Cópias de DNA , Ultrassonografia Pré-Natal , Adolescente , Adulto , Algoritmos , Feminino , Seguimentos , Testes Genéticos , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , Polimorfismo de Nucleotídeo Único , Gravidez , Segundo Trimestre da Gravidez , Estudos Prospectivos , Adulto Jovem
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